Publications:

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: SDCCAG8: 741-99A>G; rs953492

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: rs953492

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs953492

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Allele-Specific Transcript Abundance: A Pilot Study in Healthy Centenarians.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences

Tindale, Lauren C LC; Thiessen, Nina N; Leach, Stephen S; Brooks-Wilson, Angela R AR

Publication Date: 2020-05-22

Variant appearance in text: rs953492

PubMed Link: 31504207

Variant Present in the following documents:

• Main text
• glz188.pdf

View BVdb publication page

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A genome-wide association and replication study of blood pressure in Ugandan early adolescents.

Molecular Genetics & Genomic Medicine

Lule, Swaib A SA; Mentzer, Alexander J AJ; Namara, Benigna B; Muwenzi, Allan G AG; Nassanga, Beatrice B; Kizito, Dennison D; Akurut, Helen H; Lubyayi, Lawrence L; Tumusiime, Josephine J; Zziwa, Christopher C; Akello, Florence F; Gurdasani, Deept D; Sandhu, Manjinder M; Smeeth, Liam L; Elliott, Alison M AM; Webb, Emily L EL

Publication Date: 2019-10

Variant appearance in text: rs953492

PubMed Link: 31469255

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)

Wang, Yan Y; Wang, Ji-Guang JG

Publication Date: 2019-04

Variant appearance in text: rs953492

PubMed Link: 31049317

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SDCCAG8: 741-99A>G; rs953492

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology

Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB

Publication Date: 2018

Variant appearance in text: rs953492

PubMed Link: 29666641

Variant Present in the following documents:

• Main text
• IJE2018-7259704.pdf

View BVdb publication page

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Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

Nature Genetics

Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Gao, He H; Ren, Meixia M; Mifsud, Borbala B; Ntalla, Ioanna I; Surendran, Praveen P; Liu, Chunyu C; Cook, James P JP; Kraja, Aldi T AT; Drenos, Fotios F; Loh, Marie M; Verweij, Niek N; Marten, Jonathan J; Karaman, Ibrahim I; Lepe, Marcelo P Segura MP; O'Reilly, Paul F PF; Knight, Joanne J; Snieder, Harold H; Kato, Norihiro N; He, Jiang J; Tai, E Shyong ES; Said, M Abdullah MA; Porteous, David D; Alver, Maris M; Poulter, Neil N; Farrall, Martin M; Gansevoort, Ron T RT; Padmanabhan, Sandosh S; Mägi, Reedik R; Stanton, Alice A; Connell, John J; Bakker, Stephan J L SJ; Metspalu, Andres A; Shields, Denis C DC; Thom, Simon S; Brown, Morris M; Sever, Peter P; Esko, Tõnu T; Hayward, Caroline C; van der Harst, Pim P; Saleheen, Danish D; Chowdhury, Rajiv R; Chambers, John C JC; Chasman, Daniel I DI; Chakravarti, Aravinda A; Newton-Cheh, Christopher C; Lindgren, Cecilia M CM; Levy, Daniel D; Kooner, Jaspal S JS; Keavney, Bernard B; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Howson, Joanna M M JM; Tobin, Martin D MD; Munroe, Patricia B PB; Ehret, Georg B GB; Wain, Louise V LV; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; ,

Publication Date: 2017-03

Variant appearance in text: rs953492

PubMed Link: 28135244

Variant Present in the following documents:

• Main text
• NIHMS70782-supplement-Supplementary_tables.xlsx, sheet 16
• emss-70782.pdf

View BVdb publication page

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